Mutagenetix > Incidental Mutation

Incidental Mutation 'R6345:Vmn1r228'

514133

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r228

Ensembl Gene

ENSMUSG00000060245

Gene Name

vomeronasal 1 receptor 228

Synonyms

V1re3

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R6345 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20776059-20777501 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20776882 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 125 (S125P)

Ref Sequence

ENSEMBL: ENSMUSP00000072243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072410]

AlphaFold

Q8R2A7

Predicted Effect

probably damaging
Transcript: ENSMUST00000072410
AA Change: S125P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000072243
Gene: ENSMUSG00000060245
AA Change: S125P

Domain	Start	End	E-Value	Type
Pfam:TAS2R	32	317	2.6e-11	PFAM
Pfam:7tm_1	53	316	2.6e-9	PFAM
Pfam:V1R	63	321	1.3e-26	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,226,051	I121T	probably benign	Het
4921524L21Rik	T	A	18: 6,626,399	M137K	possibly damaging	Het
Angpt4	C	A	2: 151,929,434	N223K	probably benign	Het
Ankrd6	T	C	4: 32,810,266	R437G	probably damaging	Het
Atp9a	C	T	2: 168,676,173	S264N	probably damaging	Het
AY358078	A	C	14: 51,826,292	Y465S	probably damaging	Het
Bin3	G	A	14: 70,137,227	R235Q	probably benign	Het
Bsn	G	A	9: 108,107,355	P3167S	unknown	Het
Camk2g	G	A	14: 20,737,375	R274C	probably damaging	Het
Ccdc61	A	T	7: 18,909,989		probably null	Het
Ccnjl	A	T	11: 43,585,338	T263S	probably benign	Het
Col17a1	G	T	19: 47,653,379	P944T	possibly damaging	Het
Cyp2c39	A	T	19: 39,513,171		probably null	Het
Cyp2c39	G	T	19: 39,513,172		probably null	Het
Cyp4a32	T	C	4: 115,602,363	V98A	possibly damaging	Het
D430042O09Rik	C	A	7: 125,752,987	D26E	probably damaging	Het
Dnah9	A	G	11: 66,037,693	V2050A	probably damaging	Het
F5	A	G	1: 164,191,951	N665S	probably benign	Het
Fbxl6	A	T	15: 76,535,854	C520S	probably damaging	Het
Fscn2	C	A	11: 120,362,027	H107N	probably damaging	Het
Gfm2	C	T	13: 97,162,953	T367M	probably damaging	Het
Gle1	C	G	2: 29,936,115	P69A	probably benign	Het
Gpr156	A	T	16: 37,987,519	D176V	probably damaging	Het
Grip2	A	G	6: 91,765,388	S895P	possibly damaging	Het
Hfm1	C	T	5: 106,841,638	G1404D	probably benign	Het
Ifit1bl1	G	A	19: 34,594,170	R296*	probably null	Het
Ighv1-39	C	T	12: 114,914,859	V31M	possibly damaging	Het
Itgav	A	G	2: 83,802,036	E956G	probably damaging	Het
Lsm8	A	G	6: 18,853,645	D86G	probably damaging	Het
Mdh1b	T	G	1: 63,715,239	H390P	possibly damaging	Het
Mtrf1l	A	T	10: 5,817,468	I216N	possibly damaging	Het
Muc16	G	A	9: 18,654,926	T2099I	unknown	Het
Myh7	T	C	14: 54,983,692	R925G	probably damaging	Het
Myo1h	T	A	5: 114,351,708	I658N	probably damaging	Het
Myo5a	A	T	9: 75,189,913	D81V	possibly damaging	Het
Nell1	G	A	7: 49,975,423	C12Y	possibly damaging	Het
Obscn	T	C	11: 59,053,696	Y4724C	probably damaging	Het
Olfr1055	A	G	2: 86,347,548	Y73H	probably damaging	Het
Pah	G	A	10: 87,576,187	D315N	probably damaging	Het
Per2	A	G	1: 91,448,722	V143A	probably damaging	Het
Plcxd1	T	C	5: 110,100,299	V38A	probably benign	Het
Pld1	A	G	3: 28,130,747		probably benign	Het
Plekhh2	A	G	17: 84,575,787	N761S	probably benign	Het
Polh	T	C	17: 46,182,738	I318V	probably benign	Het
Prex1	T	C	2: 166,572,960	Q1323R	probably null	Het
Rb1cc1	T	A	1: 6,263,257	S1440T	probably benign	Het
Rbm19	G	T	5: 120,127,040	W382L	possibly damaging	Het
Rchy1	T	C	5: 91,957,942	D49G	probably benign	Het
Ric1	A	G	19: 29,604,085	D1402G	probably benign	Het
S1pr3	G	T	13: 51,419,031	A83S	probably damaging	Het
S1pr3	C	A	13: 51,419,032	A83D	probably damaging	Het
Selplg	G	A	5: 113,820,149	P32L	probably benign	Het
Serpinb9c	T	C	13: 33,149,995	R355G	probably damaging	Het
Slx4	G	C	16: 3,990,850	Q409E	probably benign	Het
Sntg1	A	C	1: 8,583,284	L243R	possibly damaging	Het
Specc1l	G	T	10: 75,248,488	D682Y	probably damaging	Het
Spen	C	T	4: 141,471,633	V3228I	possibly damaging	Het
Strip1	T	C	3: 107,628,200	E69G	probably damaging	Het
Tasp1	C	A	2: 139,951,537	V240L	probably damaging	Het
Tdrd9	T	A	12: 112,034,608	F787L	probably damaging	Het
Wdhd1	A	G	14: 47,251,922	M718T	probably damaging	Het

Other mutations in Vmn1r228

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01368:Vmn1r228	APN	17	20776512	missense	probably benign	0.07
IGL03275:Vmn1r228	APN	17	20776842	missense	probably damaging	1.00
PIT4498001:Vmn1r228	UTSW	17	20776510	missense	probably benign	0.00
R0097:Vmn1r228	UTSW	17	20776363	missense	probably benign	0.05
R0097:Vmn1r228	UTSW	17	20776363	missense	probably benign	0.05
R0270:Vmn1r228	UTSW	17	20776596	missense	possibly damaging	0.60
R0279:Vmn1r228	UTSW	17	20776375	missense	probably benign	0.02
R1544:Vmn1r228	UTSW	17	20777023	missense	probably benign	0.00
R1695:Vmn1r228	UTSW	17	20776298	missense	possibly damaging	0.49
R2086:Vmn1r228	UTSW	17	20777193	missense	possibly damaging	0.71
R2275:Vmn1r228	UTSW	17	20776545	missense	probably damaging	1.00
R2965:Vmn1r228	UTSW	17	20776347	missense	probably damaging	0.99
R4425:Vmn1r228	UTSW	17	20776599	missense	probably damaging	1.00
R4447:Vmn1r228	UTSW	17	20777107	missense	probably damaging	0.96
R5031:Vmn1r228	UTSW	17	20776681	nonsense	probably null
R7064:Vmn1r228	UTSW	17	20777023	missense	probably benign	0.00
R7880:Vmn1r228	UTSW	17	20776410	missense	probably damaging	1.00
R8000:Vmn1r228	UTSW	17	20776965	missense	possibly damaging	0.88
R8290:Vmn1r228	UTSW	17	20776462	missense	probably benign	0.09
R9022:Vmn1r228	UTSW	17	20776516	missense	probably damaging	1.00
R9027:Vmn1r228	UTSW	17	20777160	missense	probably benign	0.01
R9291:Vmn1r228	UTSW	17	20776761	missense	probably benign
R9492:Vmn1r228	UTSW	17	20776600	missense	probably damaging	1.00
R9618:Vmn1r228	UTSW	17	20776783	missense	probably benign	0.00
X0018:Vmn1r228	UTSW	17	20776701	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- GCCTCCAGAGTGACAGAATTC -3'
(R):5'- TGGTATTCTGGGAAACTTCTCC -3'

Sequencing Primer
(F):5'- TCCAGAGTGACAGAATTCAGAATC -3'
(R):5'- GGAAACTTCTCCCTTCTTTTCTAC -3'

Posted On

2018-04-27